Total EPVS, BG-EPVS and CSO-EPVS burden showed a strong correlation with AQP4 levels (r = 0.38, p = 0.001; r = 0.27, p = 0.025; r = 0.37, p = 0.002, respectively), and CSO-EPVS were positively correlated with tTau (r = 0.29, p = 0.040). The gene discussed is AQP4; the disease is craniosynostosis.